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    CRISP1 cysteine rich secretory protein 1 [ Homo sapiens (human) ]

    Gene ID: 167, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CRISP1provided by HGNC
    Official Full Name
    cysteine rich secretory protein 1provided by HGNC
    Primary source
    HGNC:HGNC:304
    See related
    Ensembl:ENSG00000124812 MIM:601193; AllianceGenome:HGNC:304
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ARP; AEGL1; HUMARP; CRISP-1; HEL-S-57; HSCRISP1D; HSCRISP1G
    Summary
    Fertilization consists of a sequence of specific cell-cell interactions culminating in the fusion of the sperm and egg plasma membranes. Recognition, binding, and fusion occur through the interaction of complementary molecules that are localized to specific domains of the sperm and egg plasma membranes. In the sperm, the postacrosomal region or equatorial segment is involved in sperm-egg plasma membrane fusion. The protein encoded by this gene is a member of the cysteine-rich secretory protein (CRISP) family. It is expressed in the epididymis, is secreted into the epididymal lumen, and binds to the postacrosomal region of the sperm head, where it plays a role in sperm-egg fusion. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
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    Genomic context

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    See CRISP1 in Genome Data Viewer
    Location:
    6p12.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (49834257..49877096, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (49676220..49719057, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (49801970..49844809, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene phosphoglycerate kinase 2 Neighboring gene uncharacterized LOC101927020 Neighboring gene uncharacterized LOC101927048 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:49859209-49860408 Neighboring gene MPRA-validated peak5842 silencer Neighboring gene defensin beta 133 (pseudogene) Neighboring gene defensin beta 114

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The less conserved metal-binding site in human CRISP1 remains sensitive to zinc ions to permit protein oligomerization. Sheng J, et al. Sci Rep, 2021 Mar 9. PMID 33750840, Free PMC Article
    2. Cysteine-rich secretory protein 1 in seminal plasma: potential biomarker for the distinction between obstructive and nonobstructive azoospermia. Légaré C, et al. Fertil Steril, 2013 Nov. PMID 23987519
    3. Vasectomy affects cysteine-rich secretory protein expression along the human epididymis and its association with ejaculated spermatozoa following vasectomy surgical reversal. Légaré C, et al. J Androl, 2010 Nov-Dec. PMID 20378925
    4. The molecular basis of sperm-oocyte membrane interactions during mammalian fertilization. Evans JP. Hum Reprod Update, 2002 Jul-Aug. PMID 12206465
    5. Molecular mechanisms involved in mammalian gamete fusion. Cuasnicú PS, et al. Arch Med Res, 2001 Nov-Dec. PMID 11750738

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The less conserved metal-binding site in human CRISP1 remains sensitive to zinc ions to permit protein oligomerization.
      Title: The less conserved metal-binding site in human CRISP1 remains sensitive to zinc ions to permit protein oligomerization.
    2. Epididymal CRISP1 mediates sperm-zona pellucida binding through its interaction with ZP3.
      Title: Human fertilization: epididymal hCRISP1 mediates sperm-zona pellucida binding through its interaction with ZP3.
    3. Seminal CRISP1 combined with neutral alpha glucosidase activity can potentially distinguish between obstructive and nonobstructive azoospermia.
      Title: Cysteine-rich secretory protein 1 in seminal plasma: potential biomarker for the distinction between obstructive and nonobstructive azoospermia.
    4. CRISP1 was in the seminal plasma of normal and vasovasostomized men, but not in that of vasectomized men. The soluble concentration of CRISP1 was significantly higher in the seminal plasma of vasovasostomized men as compared with that from normal men.
      Title: Vasectomy affects cysteine-rich secretory protein expression along the human epididymis and its association with ejaculated spermatozoa following vasectomy surgical reversal.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium channel regulator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in binding of sperm to zona pellucida IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in fusion of sperm to egg plasma membrane involved in single fertilization TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of acrosome reaction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus HDA PubMed 

    General protein information

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    Preferred Names
    cysteine-rich secretory protein 1
    Names
    AEG-like protein
    AEG-related protein
    acidic epididymal glycoprotein homolog
    acidic epididymal glycoprotein-like 1
    cysteine-rich secretory protein-1 delta
    epididymis secretory protein Li 57

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001131.3 → NP_001122.2  cysteine-rich secretory protein 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001122.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript and encodes the longer isoform (1). Variants 1 and 3 encode the same isoform.
      Source sequence(s)
      AL359458
      Consensus CDS
      CCDS4931.1
      UniProtKB/Swiss-Prot
      B5BU98, O00698, P54107, Q13248, Q14082, Q96SF6
      UniProtKB/TrEMBL
      A0A0K0K1I1, A8K8Y2
      Related
      ENSP00000338276.4, ENST00000335847.9
      Conserved Domains (2) summary
      cd05383
      Location:39 → 177
      SCP_CRISP; SCP_CRISP: SCP-like extracellular protein domain, CRISP-like sub-family. The wider family of SCP containing proteins includes plant pathogenesis-related protein 1 (PR-1), CRISPs, mammalian cysteine-rich secretory proteins, which combine SCP with a ...
      pfam08562
      Location:195 → 249
      Crisp; Crisp

    2. NM_001205220.2 → NP_001192149.1  cysteine-rich secretory protein 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001192149.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' terminal non-coding exon, thus differs in the 5' UTR compared to variant 1. Variants 1 and 3 encode the same isoform (1).
      Source sequence(s)
      AL359458, BC028577, X95237
      Consensus CDS
      CCDS4931.1
      UniProtKB/Swiss-Prot
      B5BU98, O00698, P54107, Q13248, Q14082, Q96SF6
      UniProtKB/TrEMBL
      A0A0K0K1I1, A8K8Y2
      Related
      ENSP00000427589.1, ENST00000505118.1
      Conserved Domains (2) summary
      cd05383
      Location:39 → 177
      SCP_CRISP; SCP_CRISP: SCP-like extracellular protein domain, CRISP-like sub-family. The wider family of SCP containing proteins includes plant pathogenesis-related protein 1 (PR-1), CRISPs, mammalian cysteine-rich secretory proteins, which combine SCP with a ...
      pfam08562
      Location:195 → 249
      Crisp; Crisp

    3. NM_170609.2 → NP_733758.1  cysteine-rich secretory protein 1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_733758.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 3' coding region compared to variant 1. This results in a frame-shift, early translation termination, and a shorter isoform (2, also known as CRISP-1 delta) compared to isoform 1.
      Source sequence(s)
      AL359458
      Consensus CDS
      CCDS4932.1
      UniProtKB/Swiss-Prot
      P54107
      Related
      ENSP00000425020.1, ENST00000507853.5
      Conserved Domains (1) summary
      cd05383
      Location:39 → 178
      SCP_CRISP; SCP_CRISP: SCP-like extracellular protein domain, CRISP-like sub-family. The wider family of SCP containing proteins includes plant pathogenesis-related protein 1 (PR-1), CRISPs, mammalian cysteine-rich secretory proteins, which combine SCP with a ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      49834257..49877096 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017010320.3 → XP_016865809.1  cysteine-rich secretory protein 1 isoform X1

      Conserved Domains (2) summary
      pfam08562
      Location:93 → 147
      Crisp; Crisp
      cl00133
      Location:1 → 75
      SCP; SCP: SCP-like extracellular protein domain, found in eukaryotes and prokaryotes. This family includes plant pathogenesis-related protein 1 (PR-1), which accumulates after infections with pathogens, and may act as an anti-fungal agent or be involved in ...

    2. XM_011514315.4 → XP_011512617.1  cysteine-rich secretory protein 1 isoform X1

      Conserved Domains (2) summary
      pfam08562
      Location:93 → 147
      Crisp; Crisp
      cl00133
      Location:1 → 75
      SCP; SCP: SCP-like extracellular protein domain, found in eukaryotes and prokaryotes. This family includes plant pathogenesis-related protein 1 (PR-1), which accumulates after infections with pathogens, and may act as an anti-fungal agent or be involved in ...

    3. XM_017010321.3 → XP_016865810.1  cysteine-rich secretory protein 1 isoform X1

      Conserved Domains (2) summary
      pfam08562
      Location:93 → 147
      Crisp; Crisp
      cl00133
      Location:1 → 75
      SCP; SCP: SCP-like extracellular protein domain, found in eukaryotes and prokaryotes. This family includes plant pathogenesis-related protein 1 (PR-1), which accumulates after infections with pathogens, and may act as an anti-fungal agent or be involved in ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      49676220..49719057 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354384.1 → XP_054210359.1  cysteine-rich secretory protein 1 isoform X1

    2. XM_054354383.1 → XP_054210358.1  cysteine-rich secretory protein 1 isoform X1

    3. XM_054354385.1 → XP_054210360.1  cysteine-rich secretory protein 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P54107.1 GenPept UniProtKB/Swiss-Prot:P54107

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